[SMC] Congenital Myasthenic Syndromes in Two Male Siblings Born to Healthy Consanguineous Parents: A Case Report
Posté : 31 janv. 2024 12:00
Int J Neurosci. 2024 Jan 31:1-8. doi: 10.1080/00207454.2024.2313010. Online ahead of print.
ABSTRACT
PURPOSE: Congenital myasthenic syndromes include a wide range of early-onset genetic neuromuscular transmission disorders. Mutations in any one of genes coding for proteins related to the neuromuscular junction synaptic transmission function, can lead to such rare recessive inherited disorders.
CASE PRESENTATION: We present a report on recurrence of congenital myasthenic syndromes in two consecutive male siblings who were diagnosed on the basis of clinical findings.
CONCLUSION: To minimize risks for having affected child/children with autosomal recessive disorders, consanguineous couples must undergo genetic risk assessment, counseling and screening.
PMID:38294717 | DOI:10.1080/00207454.2024.2313010
Source: https://pubmed.ncbi.nlm.nih.gov/3829471 ... 7&v=2.18.0